A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101069



Internal ID21281978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18180259..18200610hg38UCSC Ensembl
Innerchr19:18291069..18311420hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3820352
hg1920352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111363
Supporting Variants
Samplessample32
Known GenesMPV17L2, RAB3A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101069
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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